So wo ba kumaa no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Blau Syndrome ho asɛm.

So wo ba kumaa no taa nya akisikuru? Anaasɛ woka sɛ ne nkwaa yɛ no yaw? So ɛtɔ mmere bi a n’aniwa yɛ kɔkɔɔ na ɛte sɛ nea n’ani so yɛ kusuu kakra? Ɛwom sɛ saa nneɛma yi mu biako anaa abien betumi asi de, nanso ɛtɔ mmere bi a ne nyinaa tumi bom ba. Ɛnnɛ yɛrebɛka aduruyɛ tebea bi a ɛntaa nsi nanso ɛho hia yiye a ɛsɛ sɛ yɛma yɛn ani da hɔ ho asɛm. Ɛno ne Blau Syndrome .

Dɛn ne Blau Syndrome?

Sɛ yɛbɛka no tiawa a, Blau Syndrome yɛ ɔyare a ɛma obi ho hyehye no a ɛntaa nsi a ɛka wo ba no honam ani, ne nkwaa, ne n’ani . ‘Ɔfe’ kyerɛ sɛ nipadua no mu hohoro na ɛyɛ kɔkɔɔ. Nea ɛde tebea yi ba titiriw ne awosu mu nsakrae a wɔde wo abofra no . Mpɛn pii no, sɛnkyerɛnne te sɛ honam ani akisikuru, nkwaa mu yaw, anaa ntini mu yare fi ase ansa na abofra no adi mfe 5 . Ebetumi nso de tebea bi a wɔfrɛ no uveitis a ɛka anisoadehu aba.

Dɛn na edin "Blau Syndrome" no kyerɛ?

Sɛ wote saa din yi a, ebia woresusuw nea eyi yɛ ho. Momma yɛnhwɛ nea nsɛmfua abien yi kyerɛ:

• Blau: Nokwarem no, eyi ne oduruyɛfo bi din. Wɔ 1985 mu no, Oduruyɛfo Edward Blau a na anka ɔyɛ mmofra oduruyɛfo wɔ Wisconsin tintim nhwehwɛmu krataa bi a ɛfa saa yare yi ho. Ɔkaa abusua bi a yare no ahyia awo ntoatoaso anan ho asɛm.
• Syndrome: Wɔ nnuruyɛ mu no, syndrome yɛ tebea a ɛma sɛnkyerɛnne ahorow pii a ɛfa ho bom na ɛka nipadua no afã horow. Ɛne sɛ, sɛnkyerɛnne ahorow a wɔaka abom sen sɛ ɛbɛyɛ yare biako.

Dɛn ne Blau Syndrome ho sɛnkyerɛnne ahorow?

Blau yare no ho sɛnkyerɛnne taa fi ase wɔ nkokoaabere mu . Mpɛn pii no, saa sɛnkyerɛnne ahorow yi da adi bere a wadi mfe 5. Ɛka wo ba no honam ani, ne nkwaa, ne n’ani titiriw .

Honam ani sɛnkyerɛnne ahorow

Blau yare no ho sɛnkyerɛnne a edi kan ne honam ani yare bi a wɔfrɛ no granulomatous dermatitis. Eyi yɛ akisikuru a epue wɔ honam ani. Ɛtaa pue wɔ abofra nsa, nan, anaa nipadua no mmeae afoforo te sɛ koko ne yafunu so wɔ abofra nkwa afe a edi kan mu . Saa honam ani yare yi betumi de sɛnkyerɛnne ahorow te sɛ:

• Nkuruwa anaa ntini a ɛyɛ den a wubetumi ate nka wɔ wo ba no honam ani . Wɔfrɛ eyinom granulomas.
• Wora no bɛyɛ te sɛ akorade .
• Nkuru kɔkɔɔ, kɔkɔɔ, anaa bruu a ɛwɔ abofra no honam ani fã a ɛwɔ soro, epidermis no so.Bumps da adi.

Nsɛnkyerɛnne a ɛwɔ nkwaa mu

Blau yare no betumi ama wo ba no nkwaa a wɔfrɛ no synovium no ho ayɛ hyew. Wo ba no betumi anya ntini mu yare wɔ mmeae te sɛ ne nsa, ne nsateaa, ne nan, ne ne nansoaa bere a wadi mfe 2 kosi 4. Ntini mu yare ho sɛnkyerɛnne bi ne:

• Nkwaa mu yaw .
• Ntini ne nnompe mu ɛyaw , titiriw wɔ ntini ahorow no mu.
• Nkwaa a ɛho ahonhon anaasɛ ɛyɛ den .

Fa no sɛ sɛ wo ba kumaa no su bere a ɔsɔre anɔpa, na ontumi nhinhim ne nsa, anaasɛ onwiinwii bere nyinaa sɛ ne nkwaa yɛ no yaw bere a ɔrekɔ agoru no a, ɛsɛ sɛ wohaw wo ho wɔ saa asɛm no ho.

Aniwa mu sɛnkyerɛnne ahorow

Mmofra a wɔahu sɛ wɔwɔ Blau syndrome no mu bɛyɛ 80% nya aniwa mu yare bi a wɔfrɛ no uveitis. Uveitis yɛ aniwa no mfinimfini fã a ɛyɛ hyew, a wɔfrɛ no uvea. Ebetumi aka abofra no retina ne n’aniwa ntini. Abofra betumi anya uveitis wɔ n'ani abien no nyinaa mu , na ebetumi ama n'ani nso ayɛ mmerɛw . Uveitis ho sɛnkyerɛnne ahorow bi ne:

• Anisoadehu a ɛba fam .
• Wuhu nsensanee tuntum nketewa (eye floaters ) a ɛredi akɔneaba wɔ w’ani anim.
• Wote ɛyaw anaa nhyɛso nka wɔ w’ani so .
• Aniwa a ɛyɛ kɔkɔɔ .
• Photosensitivity , a ɛkyerɛ sɛ ɛbɛyɛ den sɛ wubehu hann.
• Aniwa a ɛho ahonhon .

Ɔkwan bɛn so na Blau Syndrome ka nipadua no afã afoforo?

Ɛwom sɛ eyi ntaa nsi koraa de, nanso wo ba a ɔwɔ Blau yare no betumi anya ɔyare a ebetumi de ne nkwa ato asiane mu wɔ akwaa ahorow yi mu:

• Mogya ntini ahorow
• Adwene
• Akoma
• Brɛboɔ
• Ntini a ɛma mogya tu (ntini a ɛma mogya tu) .
• Akisikuru a ɛwɔ akyi

Dɛn ne nsɛnnennen a ebetumi afi Blau Syndrome mu aba?

Ɔhyew tebea a Blau yare no de ba no betumi de nsɛnnennen te sɛ:

• Aniwa a ɛyɛ mmerɛw, atiridiinini, cystoid macular edema, retina a ɛtwetwe, ne aniwa a ɛyera koraa.
• Ɛyɛ den sɛ wobɛtu ne nkwaa a ayɛ den no a ɛbɛbɔ daa.
• Asaabo mu yare ne asaabo a entumi nyɛ adwuma yiye .
• Koma a ɛyɛ hyew.
• Akisikuru a ayɛ kɛse.
• Neuropathy - ntini mu haw.
• Pulmonary hypertension - mogya mmoroso a ewo ahurututu mu.
• Vasculitis - mogya ntini a ɛyɛ hyew.

Dɛn na ɛde Blau Syndrome ba?

Nea ɛde Blau yare no ba titiriw ne nkwaadɔm mu nsakrae a ɛba NOD2 awosu mu abɔde mu . Wɔ nnipa dodow no ara a wɔwɔ apɔwmuden mu no, saa NOD2 awosu mu abɔde yi yɛ protein bi a wɔfrɛ no NOD2. Saa protein yi boa yɛn nipadua mu tumi a ɛko tia nyarewa no ma wɔko tia mmoawa ne nyarewa. Nanso, sɛ wo ba wɔ Blau yare a, saa NOD2 protein yi yɛ adwuma boro so . Eyi sesa ɔkwan a nipadua no mu tumi a ɛko tia nyarewa no yɛ adwuma, na ɛde ɔfe a emu yɛ den ba a ɛka abofra no ani, ne honam ani, ne ne nkwaa.

Hena na ɔwɔ asiane mu sɛ obenya Blau Syndrome?

Sɛ ɔwofo biako wɔ Blau yare (anaasɛ awosu mu nkwaadɔm mu nsakrae a ɛde ba) a, abofra no wɔ hokwan 50% sɛ obenya awosu mu abɔde a wɔasesa no na wanya yare no . Ɛsɛ sɛ abofra no nya awosu mu nkwaadɔm a wɔasesa no biako fi awo mu na ama wanya yare no. Eyi kyerɛ sɛ ɛyɛ awosu mu tebea bi a ɛka kuw bi a wɔfrɛ no autosomal dominant disorders ho. Ɛtɔ mmere bi a, abofra betumi anya saa awosu mu nkwaadɔm mu nsakrae yi fi awo mu na wannya Blau yare no. Nanso, abofra no wɔ hokwan 50% sɛ ɔde awosu mu abɔde a wɔasesa no bɛma wɔn mma daakye.

Nnuruyɛfo bɛn na wohu Blau Syndrome na wɔsa?

Ɛdenam wo ba no yare no ho sɛnkyerɛnne so no, ebia obehia ayaresa afi nnuruyɛfo kuw bi hɔ, a nea ɛka ho ne:

• Ntini mu yare ho oduruyɛfo (oduruyɛfo a ne ho akokwaw wɔ nkwaa mu nyarewa mu) a ɔhwɛ ntini mu yare ne ɔhaw ahorow a ɛfa nkwaa ho .
• Oduruyɛfo a ɔyɛ honam ani yare (ɔyare ho ɔbenfo) a ɔhwɛ honam ani nyarewa so .
• Aniwa ho oduruyɛfo (aniwa ho ɔbenfo) a ɔhwɛ aniwa mu haw ahorow so .

Ɔkwan bɛn so na nnuruyɛfo hu Blau Syndrome?

Ɛsono nhwehwɛmu a wɔyɛ de hu Blau yare no, na egyina wo ba no yare no ho sɛnkyerɛnne ahorow so. Wobetumi ayɛ awosu mu nhwehwɛmu (mogya mu nhwehwɛmu) de ahu NOD2 awosu mu nkwaadɔm mu nsakrae a ɛde Blau yare no ba. Wo ba no nso betumi ayɛ sɔhwɛ ahorow a edidi so yi mu biako anaa nea ɛboro saa:

• Aniwa mu nhwehwɛmu: Ebia eyi bɛka sɔhwɛ ahorow te sɛ optical coherence tomography (OCT) ne visual field testing ho.
• Mfoniniyɛ mu nhwehwɛmu : MRI scan, CT scan, ultrasound, anaa X-ray a wɔde hwɛ nkwaa ne akwaa afoforo a egyina sɛnkyerɛnne ahorow no so.
• Skin biopsy : Wofa honam ani fã ketewaa bi de yɛ nhwehwɛmu.

So nhwehwɛmu a wɔyɛ ansa na wɔawo no betumi ahu Blau Syndrome?

Nhwehwɛmu a wɔyɛ ansa na wɔawo te sɛ chorionic villus sampling anaa amniocentesis nsɔ NOD2 awosu mu nkwaadɔm mu nsakrae no nhwɛ pɔtee.

Dɛn ne din afoforo a wɔde frɛ Blau Syndrome?

Wo ba no duruyɛfo nso betumi de din ahorow yi mu biako afrɛ Blau syndrome:

• Mmofra ntini mu yare a ɛyɛ granulomatous
• Ntini mu akisikuru a ɛyɛ granulomatosis
• Abusua mu granulomatosis a ɛyɛ mmerɛw
• Abusua mu mmofra nhyehyɛe mu granulomatosis
• Granulomatous inflammatory arthritis, honam ani yare ne uveitis

Blau Syndrome ho yɛ na dɛn?

Blau syndrome yɛ yare a ɛntaa nsi koraa . Wɔ wiase nyinaa no, ɛka mmofra a ennu ɔpepem biako biara mu biako .

Ɔkwan bɛn so na nnuruyɛfo sa Blau Syndrome?

Wo ba no aduruyɛ kuw no bɛbɔ mmɔden sɛ wɔbɛsa tebea horow na ama yare no ho sɛnkyerɛnne so atew na wɔasiw yare a ɛbɛsɔre no ano. Ɛsono ayaresa a wobetumi apaw a egyina tebea no ne sɛnea emu yɛ den so. Ebia nea ɛka ho ne:

• Nnuru a ɛma nipadua no tumi ko tia nyarewa : Nnuru te sɛ corticosteroids, methotrexate, ne tumor necrosis factor (TNF) inhibitors.
• Nnuru a ɛko tia ɔyare mmoawa : Nnuru te sɛ nnuru a ɛko tia ɔyare mmoawa a ɛnyɛ steroid (NSAIDs).
• Aniwa nnuru ne/anaasɛ aniwa oprehyɛn a wɔde sa aniwa a ɛyɛ mmerɛw ne atiridiinini .
• Apɔw-mu-teɛteɛ ne adwuma mu ayaresa ayaresa .

Dɛn ne obi a ɔwɔ Blau Syndrome daakye?

Ɛwom sɛ wonni aduru pɔtee biara a wɔde sa Blau yare no de, nanso ayaresa betumi adi yare no ho sɛnkyerɛnne ahorow so na ama wo ba no anya asetra pa akosi ne mpanyin afe so.Ebetumi aboa. Ɛsono ɔkwan a tebea yi fa so ka obiara. Nhwehwɛmu bi daa no adi sɛ mmofra a wɔwɔ Blau yare no mu 40% wɔ sɛnkyerɛnne a emu nyɛ den na wotumi yɛ nnam te sɛ mmofra afoforo a wɔn mfe akɔ anim. Nanso, mmofra bɛyɛ 10% nya yare no ho sɛnkyerɛnne a emu yɛ den. Sɛ Blau yare no ka nipadua no akwaa atitiriw a, ebetumi ama obi nkwa nna ayɛ tiaa .

So wobetumi asiw Blau Syndrome ano?

Sɛ wo anaa wo hokafo wɔ awosu mu nkwaadɔm mu nsakrae a ɛde Blau yare no ba a, ɛbɛyɛ papa sɛ wubehu awosu mu ɔfotufo ansa na woawo mma. Saa oduruyɛfo titiriw yi betumi ne wo akasa afa asiane a ɛwɔ hɔ sɛ wo mma daakye benya NOD2 awosu mu abɔde a wɔasesa no ho.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo ba no wɔ nea edidi so yi mu biara a, kɔ oduruyɛfo nkyɛn ntɛm ara:

• Sɛ ɛyɛ den ma wo sɛ wobɛkura nneɛma mu, wobɛkotow wo nkwaa, anaasɛ wobɛkeka wo ho a .
• Sɛ ɛyaw a emu yɛ den wɔ hɔ a .
• Sɛ wowɔ anisoadehu mu haw ahorow a .

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Wubetumi abisa wo duruyɛfo nsɛm te sɛ eyinom:

• Dɛn na ɛma me ba nya Blau Syndrome?
• Nnuru ne ayaresa bɛn na ebetumi aboa me ba no?
• So ɛsɛ sɛ me ne me kunu/yere yɛ awosu mu nhwehwɛmu?
• So ɛsɛ sɛ mehwɛ yiye wɔ nsɛnnennen ho sɛnkyerɛnne ahorow ho?

Nsonsonoe bɛn na ɛda Blau Syndrome ne Early-Onset Sarcoidosis ntam?

Blau syndrome ne sarcoidosis a efi ase ntɛm yɛ yare koro ankasa , a ɛwɔ sɛnkyerɛnne koro. Nanso, mmofra a wɔwɔ Blau yare no nya awosu mu nsakrae a ɛde yare no ba no fi awo mu. Mmofra a wɔwɔ sarcoidosis a efi ase ntɛm no nni abusua abakɔsɛm a ɛkyerɛ sɛ wɔwɔ Blau yare no. Eyi kyerɛ sɛ NOD2 awosu mu abɔde no sesa anaasɛ ɛsakra bere ne bere mu , a ntease biara nni mu. Wɔfrɛ eyi de novo awosu mu nkwaadɔm mu nsakrae.

Nea etwa to no, nneɛma a ɛsɛ sɛ yɛkae

Abofra a ɔwɔ yare a enni sabea te sɛ Blau Syndrome a wɔbɛhwɛ no betumi ayɛ den. Sɛ wowɔ Blau Syndrome a, ebia wubetumi de w’ankasa osuahu adi dwuma de aboa wo ba no yiye. Wubetumi nso de wo suahu no aboa wo ba no ma watra ase ne saa nkwa nna nyinaa tebea yi. Ade a ɛho hia sen biara ne sɛ wobɛhwehwɛ ayaresa afi oduruyɛfo titiriw bi a onim ntini mu yare, uveitis, ne honam ani tebea horow a ɛbata Blau Syndrome ho no hɔ. Wobetumi aboa wo ba no ma wadi ne yare no ho sɛnkyerɛnne ahorow ho dwuma na wɔaboa no ma wanya mmofraberem a eye sen biara. Sɛ wuhu sɛnkyerɛnne biara a, mmu w’ani ngu so. Kɔ oduruyɛfo nkyɛn ntɛm ara.Blau Syndrome, Mmofra, Honam ani Nyarewa, Ntini mu Yare, Uveitis, Awosu mu Nyarewa, NOD2 Gene